Generation of the human iPSC line ESi132-A from a patient with retinitis pigmentosa caused by a mutation in the PRPF31 gene
Mutations in the PRPF31 gene are a well-known cause of autosomal dominant retinitis pigmentosa (RP), the most prevalent genetic form of blindness in adults, affecting 1 in 4,000 individuals globally. In this study, peripheral blood mononuclear cells from a patient carrying a heterozygous mutation in...
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| Format: | Article |
| Language: | English |
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Elsevier
2025-02-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506124003210 |
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| author | Estefanía Caballano Infantes Laurie Clauzon Berta de la Cerda Haynes Francisco Díaz-Corrales |
| author_facet | Estefanía Caballano Infantes Laurie Clauzon Berta de la Cerda Haynes Francisco Díaz-Corrales |
| author_sort | Estefanía Caballano Infantes |
| collection | DOAJ |
| description | Mutations in the PRPF31 gene are a well-known cause of autosomal dominant retinitis pigmentosa (RP), the most prevalent genetic form of blindness in adults, affecting 1 in 4,000 individuals globally. In this study, peripheral blood mononuclear cells from a patient carrying a heterozygous mutation in PRPF31 were reprogrammed to generate the human iPSC line ESi132-A. This cell line was thoroughly characterized for self-renewal and pluripotency. These cells will be used to develop advanced 3D biomodels based on multi-ocular cell differentiation to assess the efficacy of novel treatments for RP including innovative drug and gene therapies. |
| format | Article |
| id | doaj-art-8e48bd1e145d428f8e239d3e680f2dfc |
| institution | Kabale University |
| issn | 1873-5061 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj-art-8e48bd1e145d428f8e239d3e680f2dfc2025-01-13T04:18:38ZengElsevierStem Cell Research1873-50612025-02-0182103623Generation of the human iPSC line ESi132-A from a patient with retinitis pigmentosa caused by a mutation in the PRPF31 geneEstefanía Caballano Infantes0Laurie Clauzon1Berta de la Cerda Haynes2Francisco Díaz-Corrales3Department of Integrative Pathophysiology and Therapies, Andalusian Molecular Biology and Regenerative Medicine Centre (CABIMER), Junta de Andalucía, CSIC, Universidad de Sevilla, Universidad Pablo de Olavide, Avda. Américo Vespucio 24, 41092 Seville, Spain; Corresponding author.Department of Integrative Pathophysiology and Therapies, Andalusian Molecular Biology and Regenerative Medicine Centre (CABIMER), Junta de Andalucía, CSIC, Universidad de Sevilla, Universidad Pablo de Olavide, Avda. Américo Vespucio 24, 41092 Seville, Spain; Department of Precision Medicine in Medical, Surgical and Critical Care, University of Palermo, 90100 Palermo, ItalyDepartment of Integrative Pathophysiology and Therapies, Andalusian Molecular Biology and Regenerative Medicine Centre (CABIMER), Junta de Andalucía, CSIC, Universidad de Sevilla, Universidad Pablo de Olavide, Avda. Américo Vespucio 24, 41092 Seville, SpainDepartment of Integrative Pathophysiology and Therapies, Andalusian Molecular Biology and Regenerative Medicine Centre (CABIMER), Junta de Andalucía, CSIC, Universidad de Sevilla, Universidad Pablo de Olavide, Avda. Américo Vespucio 24, 41092 Seville, SpainMutations in the PRPF31 gene are a well-known cause of autosomal dominant retinitis pigmentosa (RP), the most prevalent genetic form of blindness in adults, affecting 1 in 4,000 individuals globally. In this study, peripheral blood mononuclear cells from a patient carrying a heterozygous mutation in PRPF31 were reprogrammed to generate the human iPSC line ESi132-A. This cell line was thoroughly characterized for self-renewal and pluripotency. These cells will be used to develop advanced 3D biomodels based on multi-ocular cell differentiation to assess the efficacy of novel treatments for RP including innovative drug and gene therapies.http://www.sciencedirect.com/science/article/pii/S1873506124003210 |
| spellingShingle | Estefanía Caballano Infantes Laurie Clauzon Berta de la Cerda Haynes Francisco Díaz-Corrales Generation of the human iPSC line ESi132-A from a patient with retinitis pigmentosa caused by a mutation in the PRPF31 gene Stem Cell Research |
| title | Generation of the human iPSC line ESi132-A from a patient with retinitis pigmentosa caused by a mutation in the PRPF31 gene |
| title_full | Generation of the human iPSC line ESi132-A from a patient with retinitis pigmentosa caused by a mutation in the PRPF31 gene |
| title_fullStr | Generation of the human iPSC line ESi132-A from a patient with retinitis pigmentosa caused by a mutation in the PRPF31 gene |
| title_full_unstemmed | Generation of the human iPSC line ESi132-A from a patient with retinitis pigmentosa caused by a mutation in the PRPF31 gene |
| title_short | Generation of the human iPSC line ESi132-A from a patient with retinitis pigmentosa caused by a mutation in the PRPF31 gene |
| title_sort | generation of the human ipsc line esi132 a from a patient with retinitis pigmentosa caused by a mutation in the prpf31 gene |
| url | http://www.sciencedirect.com/science/article/pii/S1873506124003210 |
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